Good Things Come in Small Packages

Our little guy is not even here yet, but already he has quite a story to tell. I thought this might be a good place to share our experiences and keep friends and family up to date on all that is going on.

So...where to begin??

I guess I should say that Owen's birth was planned long in advance. I have been a type 1 diabetic for sixteen years, so having a baby required super tight blood sugar control even before conception. Matt and I worked hard to get my blood sugars where they needed to be, and were thrilled when we found out our little guy was on the way! From early on, I had a lot of concerns about this pregnancy, but all were diabetes-related: birth defects, heart problems, and other scary stories are easy to find. Luckily, I have an excellent health-care team, and although I felt like I was constantly at the doctor, things were going well.

When I was 18 weeks, we went in for our first ultrasound. This was done at the hospital with a perinatologist (basically a high-risk OB) and a 3-D ultrasound, so we got to see very detailed pictures of the baby! I was a little nervous, hoping that Baby Sabor would be nice and healthy, but my doctors had assured me that my blood sugars were great and I had nothing to worry about. Mostly we were excited to find out the baby's gender! The doctor saw right away we were expecting a little boy, and he looked very healthy. He briefly mentioned that the arms were measuring a little short and the word "dwarf" was used, but honestly, I thought that he was being a bit of an alarmist and because he really didn't say too much, I didn't think much about it.

Because of the diabetes, we had another ultrasound at 25 weeks to do a fetal echocardiogram and make sure that there were no heart problems. Again, everything looked very healthy and normal - except for his limb measurements. All the bones in his arms and legs were measuring about 3-4 weeks behind what they should be, indicating a form of skeletal dysplasia. Of course, I had no idea what that meant! The sympathy we got from the doctor and nurses was my biggest clue that this was not typical, and not good news. Matt and I asked lots and lots of questions, although by the time we got home I couldn't remember the answers to most of them. All we knew was that our baby was going to be a dwarf, and it sounded like there were many potential health problems associated with this.

The next few days were awful. I wanted to know as much as possible about skeletal dysplasias, but the internet can be a pretty scary place, and Matt soon banned me from more research (rightfully so!!). We waited for a genetic counselor from the hospital to contact us to set up a meeting time and hopefully answer a lot of our questions, and although we only waited a day or two, it seemed endless. All I could think was that there was something wrong with our baby and I didn't fully understand what it was.

Finally we met with the genetic counselor. She explained that skeletal dysplasia is basically abnormal bone growth, and that there are over 300 different forms. The doctor was leaning towards a form called achondroplasia, simply because it is the most common form. She assured us that my diabetes had nothing to do with this; it is typically caused by a random genetic mutation. In fact, it is unlikely that other children of ours will have the same diagnosis, although we will need genetic testing to verify this for sure. We had the option of having an amniocentisis done to try and determine which form Owen has, but because they could only test for 3 or 4 of the most common kinds, the tests could come back negative, but Owen could simply have a different form they hadn't tested for. It was an easy decision for Matt and I to make - it didn't sound like this would give us the answers we were looking for anyway.

Three weeks later we were back for yet another ultrasound, this time to monitor Owen's own rate of growth, which we now knew would be different than that of other babies, and to screen for other "markers" that might indicate what kind of skeletal dysplasia he could have. I was so amazed by what could be seen on the 3-D ultrasound!! The doctor zoomed in on his little hands and feet to make sure all the bones were there and formed properly; he checked his spine, the calcification of his skull, even counted his ribs! (And I must say, all this made me realize how incredibly lacking I am in the whole human-anatomy area; the doctor would name the bones he was measuring, and Matt and I would sit and guess what body part he was referring to. I'm pretty sure our ignorance annoyed him! At one point, he was counting the ribs, and I was trying to figure our how many ribs a person is supposed to have. For some reason, I settled on seven, so I was pretty panicked when the doctor calmly hit 9,10,11.....I quickly realized there was nothing wrong, I am just dumb!! Ha!) We met with the genetic counselor immediately after the ultrasound to go over all the measurements and results. She helped us realize that we really had received the best news possible; although Owen's limbs were obviously still small, everything else looked very, very healthy. No fluid on the brain, no club feet, no bone fractures, no irregular chest measurements that could limit his breathing and thus give him a fatal diagnosis. Honestly, although this was all a relief, it was a little scary at the same time, just to realize all the potential problems I didn't even know I should worry about (ok, that's probably a very good thing....!) Basically, they can start narrowing down the type of dysplasia based on the markers he doesn't have, and at this point, all of the scariest-sounding ones (at least to me!) have been ruled out.

So basically at this point....we wait. There's not much more we can do until this little guy is born. We have another ultrasound January 18, and we will meet with a neonatologist at that point to discuss Owen's delivery. Apparently there are very few clinics in the country that specialize in skeletal dysplasias, but one is located in Madison. Everything I've read speaks very highly of Dr. Pauli, and he is at the clinic in Madison. Our genetic counselor has already been talking with the doctors there and working to set up an appointment for us as soon as Owen is born, either to help make a diagnosis, or to support one that has already been made. It makes me feel a little more at ease knowing that there is such great support so nearby.

So Owen's birth is still two months out, but he has already caused quite a stir! I do realize that our diagnosis could be much worse, and that people go through much more difficult situations. Ours will just take some getting used to. I am grateful that Matt and I both come from teaching backgrounds, so working with special needs kids and making adaptations is nothing new. My school houses severe needs students, and I know when the time comes, my coworkers will be a wealth of knowledge in terms of early childhood programs, OT/PT services, and anything else we might have questions about. Still, it's hard to know that Owen's not even born yet, and he already has obstacles he will have to deal with for the rest of his life. As a parent, that's a hard thing to accept. Luckily, I am married to the most amazing guy ever!! Matt has been so accepting of everything, and is so incredibly excited to have this baby that it is impossible to get too upset for too long. He's like a little kid waiting for Christmas. Of course, being a scientist, he also likes to point out that height has nothing to do with Owen's ability to win a Nobel, which is all he wants for him anyway (No pressure there, Owen!).

I realize this is the world's longest update, so if you've stuck it out this far, thank you for your interest and support! I will be sure to keep everyone posted on future developments!